ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1975-12A>T

gnomAD frequency: 0.00036  dbSNP: rs189530823
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002142286 SCV002415179 likely benign Muscle AMP deaminase deficiency 2023-12-27 criteria provided, single submitter clinical testing

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